{
    "disease_id": "DOID:0111447",
    "recommended_name": {
        "id": "DOID:0111447",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111447",
        "name": "progressive myoclonus epilepsy 7",
        "description": "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "Progressive myoclonic epilepsy due to KV3.1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "EPM7",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "MEAK",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "PME type 7",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "Progressive myoclonus epilepsy type 7",
            "description": ""
        },
        {
            "id": "DOID:0111447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111447",
            "name": "Myoclonus epilepsy and ataxia due to potassium channel mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonic epilepsy type 7",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene."
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "EPM7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "KCNC1 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "MEAK",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "PME type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "epilepsy, progressive myoclonic type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "meak",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "myoclonus epilepsy and ataxia due to potassium channel mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonic epilepsy caused by mutation in KCNC1",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonic epilepsy due to KV3.1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "progressive myoclonus epilepsy type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014521",
            "name": "epilepsy, progressive myoclonic 7",
            "description": ""
        },
        {
            "id": "MIM:616187",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616187",
            "name": "Epilepsy, progressive myoclonic 7",
            "description": "Epilepsy, progressive myoclonic 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111447"
    ],
    "unlinked_id_list": []
}